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M Stephenson

Showing results (511-520 of 519) with videos related to

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Journal of Neurology|April 8, 2015
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levelsEppie M Yiu, Geneieve Tai, Roger E Peverill, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, et al.
Forensic Science International. Genetics|May 25, 2021
Second GHEP-ISFG exercise for DVI: "DNA-led" victims' identification in a simulated air crashCarlos M Vullo, Laura Catelli, Adriana A Ibarra Rodriguez, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 52

Showing results (511-520 of 519) with videos related to

Sort By:
Pageof 52
You have reached the last page of results.This site can display upto 519 results.
Journal of Neurology|April 8, 2015
An open-label trial in Friedreich ataxia suggests clinical benefit with high-dose resveratrol, without effect on frataxin levelsEppie M Yiu, Geneieve Tai, Roger E Peverill, et al.
JAMA Neurology|May 4, 2026
Precision Antisense Oligonucleotide Therapy Amenability for Infantile Genetic EpilepsiesEmma Sherrill, David Cheerie, Cara J Beck, et al.
American Journal of Human Genetics|April 16, 2019
Pathogenic Variants in GPC4 Cause Keipert SyndromeDavid J Amor, Sarah E M Stephenson, Mirna Mustapha, et al.
American Journal of Human Genetics|December 1, 2014
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathologyGabrielle R Wilson, Joe C H Sim, Catriona McLean, et al.
Forensic Science International. Genetics|May 25, 2021
Second GHEP-ISFG exercise for DVI: "DNA-led" victims' identification in a simulated air crashCarlos M Vullo, Laura Catelli, Adriana A Ibarra Rodriguez, et al.
Medrxiv : the Preprint Server for Health Sciences|December 3, 2025
Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaBreana Galea, Joshua Reid, Samuel Gooley, et al.
Neurology|February 13, 2026
Diagnostic Yield of Comprehensive Reanalysis After Nondiagnostic Short-Read Genome Sequencing in Infants With Unexplained EpilepsyJimmy N H Nguyen, Maria Lachgar-Ruiz, Edward J Higginbotham, et al.
Nature Genetics|March 3, 2017
Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetranceAshley P L Marsh, Delphine Heron, Timothy J Edwards, et al.
American Journal of Human Genetics|April 8, 2022
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndromeSarah E M Stephenson, Gregory Costain, Laura E R Blok, et al.
Pageof 52